A Vital Tool for the Study of DBA:The Diamond Blackfan Anemia Registry

DBA 学习的重要工具：Diamond Blackfan 贫血登记

• 批准号: 8604725
• 负责人: Jeffrey M Lipton
• 金额: $ 40.26万
• 依托单位: FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-30 至 2015-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8604725
• 关键词: Adrenal Cortex Hormones; Affect; Anemia; Apoptotic; Biological; Biology; Canada; Cell physiology; Clinical; Clinical Research; Complex; Conduct Clinical Trials; Congenital Abnormality; Databases; Defect; Development; Diagnosis; Diagnostic; Diamond-Blackfan anemia; Disease; Disease remission; Dysmyelopoietic Syndromes; Epidemiology; Erythrocytes; Erythroid; Etiology; Event; Family; Genes; Genotype; Goals; Health Personnel; Health Professional; Hematologic Neoplasms; Hematologist; Hematopoiesis; Hereditary Disease; Incidence; Individual; Inherited; International; Investigation; Knowledge; Laboratories; Laboratory Research; Laboratory Study; Lead; Link; Literature; Malignant Neoplasms; Modality; Molecular; Mutate; Mutation; Outcome; Pancytopenia; Patients; Penetrance; Phenotype; Population; Predisposition; Production; Proteins; Publishing; Pure Red-Cell Aplasia; Rare Diseases; Registries; Reporting; Research; Resources; Ribosomal Proteins; Ribosomes; Sampling; Syndrome; Testing; Therapeutic; Therapeutic Human Experimentation; Time; Treatment Protocols; United States; base; cancer risk; clinical care; congenital anomaly; demographics; early childhood; epidemiology study; gene discovery; genetic pedigree; improved; infancy; insight; interest; outcome forecast; patient population; public health relevance; reproductive; research study; response; screening; tool; treatment response

DESCRIPTION (provided by applicant): The Diamond Blackfan Anemia Registry (DBAR) is a comprehensive database of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). DBA is a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies and a predisposition to cancer. Anemia usually presents in infancy or early childhood and approximately 50% of patients have at least one congenital anomaly. The actuarial cancer risk although increased, is as of yet, undetermined. To date six genes encoding ribosomal proteins, of both the small and large subunits, have been found to be mutated, representing nearly 50% of patients with DBA. Of note, "affected" individuals within the same family may vary dramatically as to the degree of anemia, response to corticosteroids, the presence of congenital anomalies and the development of cancer. Prior to the development of the DBAR our knowledge regarding the epidemiology and response to various treatment modalities was determined exclusively from literature reports. The DBAR has been developed in order to provide a well-characterized patient substrate linked to biological samples, permitting the study of the epidemiology and biology of DBA. The objective of this application is to improve and exploit the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of DBA; 2) provide an accurate phenotype of DBA patients to facilitate genotype-phenotype correlations; 3) provide access of well characterized patients to treatment protocols; 4) provide patients and their health care providers access to research studies; 5) provide patients and their health care providers with results of research studies; 6) serve as a resource to patients and their doctors to guide diagnostic, therapeutic, and reproductive decisions; 7) develop an accurate and rapid diagnostic screening test for DBA; and 8) encourage national and international collaborative research.

描述（由申请人提供）：钻石黑芬贫血注册中心（DBAR）是一个全面的数据库，该数据库的患者患有罕见的遗传性骨髓衰竭综合征钻石黑芬贫血（DBA）。 DBA是一种异质遗传疾病，其特征在于纯红细胞相位，先天异常和癌症的易感性。贫血通常出现在婴儿期或幼儿期，大约50％的患者至少有一个先天性异常。尚未确定的精算癌风险虽然增加，但尚未确定。迄今为止，六个编码小型和大亚基的核糖体蛋白质的基因已突变，占DBA患者的近50％。值得注意的是，同一家族中的“受影响”个体在贫血程度，对皮质类固醇的反应，先天性异常的存在和癌症的发展时可能会发生巨大变化。在开发DBAR之前，我们对流行病学和对各种治疗方式的反应的了解仅从文献报告中确定。已经开发了DBAR，以提供与生物样品相关的特征良好的患者底物，从而允许研究DBA的流行病学和生物学。该应用的目的是改善和利用DBAR，以：1）促进对DBA流行病学和生物学的研究； 2）提供DBA患者的准确表型，以促进基因型 - 表型相关性； 3）提供良好特征的患者进入治疗方案； 4）为患者及其医疗保健提供者提供研究； 5）为患者及其医疗保健提供者提供研究结果； 6）作为患者及其医生的资源，以指导诊断，治疗和生殖决定； 7）为DBA开发准确，快速的诊断筛查测试； 8）鼓励国家和国际合作研究。